Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
BCKD激酶基因突变会导致一种可能可治疗的伴有癫痫的自闭症。
期刊:Science
影响因子:45.8
doi:10.1126/science.1224631
Novarino, Gaia; El-Fishawy, Paul; Kayserili, Hulya; Meguid, Nagwa A; Scott, Eric M; Schroth, Jana; Silhavy, Jennifer L; Kara, Majdi; Khalil, Rehab O; Ben-Omran, Tawfeg; Ercan-Sencicek, A Gulhan; Hashish, Adel F; Sanders, Stephan J; Gupta, Abha R; Hashem, Hebatalla S; Matern, Dietrich; Gabriel, Stacey; Sweetman, Larry; Rahimi, Yasmeen; Harris, Robert A; State, Matthew W; Gleeson, Joseph G